Canonical Allele Identifier: CA632119625

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1443589062
• gnomAD v2: 19-12769012-C-T
• gnomAD v3: 19-12658198-C-T
• gnomAD v4: 19-12658198-C-T
• MyVariant Identifiers: chr19:g.12769012C>T (hg19) ; chr19:g.12658198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658198C>T , CM000681.2:g.12658198C>T	GRCh38
NC_000019.9:g.12769012C>T , CM000681.1:g.12769012C>T	GRCh37
NC_000019.8:g.12630012C>T	NCBI36
NG_008318.1:g.13580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1230+26G>A MANE Select	ENSP00000395473.2:n.1230+26G>A
ENST00000221363.8:c.1227+26G>A	ENSP00000221363.4:n.1227+26G>A
ENST00000456935.6:c.1230+26G>A	ENSP00000395473.2:n.1230+26G>A
ENST00000465830.1:n.394+26G>A
ENST00000466794.5:n.1129+26G>A
ENST00000495617.1:n.281-438G>A
NM_000528.3:c.1230+26G>A	NP_000519.2:n.1230+26G>A
NM_001173498.1:c.1227+26G>A	NP_001166969.1:n.1227+26G>A
XM_005259913.1:c.1233+26G>A	XP_005259970.1:n.1233+26G>A
XM_011528017.1:c.129+26G>A	XP_011526319.1:n.129+26G>A
XM_005259913.2:c.1233+26G>A	XP_005259970.1:n.1233+26G>A
XM_024451518.1:c.129+26G>A	XP_024307286.1:n.129+26G>A
NM_000528.4:c.1230+26G>A MANE Select	NP_000519.2:n.1230+26G>A
NM_001173498.2:c.1227+26G>A	NP_001166969.1:n.1227+26G>A